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Monitoring dietary therapy of patients with galactosemia due to deficiency of galactose-1-phosphate uridyltransferase or uridine diphosphate galactose-4-epimerase
Galactose-1-phosphate uridyltransferase (GALT) deficiency is the most common cause of galactosemia and requires lifelong restriction of dietary galactose.
Galactose-1-phosphate is elevated in patients with galactosemia due to GALT deficiency or uridine diphosphate galactose-4-epimerase (GALE) deficiency, therefore is a suitable analyte for monitoring dietary compliance.
See Galactosemia Testing Algorithm in Special Instructions
Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)